Orphanet is a reference portal for information on rare diseases and orphan drugs. It’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
- Prefix
orphanet- Alternative Prefixes
- ORPHA Orphanet
- Keywords
- disease drug human life science ontology ontology and terminology
- License
- CC-BY-4.0
- Links
- Homepage OWL
- Contact
- Spencer L. Liem 0000-0002-1575-9365
- Pattern for Local Unique Identifiers
-
Local identifiers in Orphanet should match this regular expression:
^C?\d+$ - Example Local Unique Identifier
- 85163 Resolve
- Pattern for CURIES
-
Compact URIs (CURIEs) constructed from Orphanet should match this regular expression:
^orphanet:C?\d+$ - Example CURIE
- orphanet:85163
- Publications
- 2008 [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
Ontology
A summary of the relations in the Bioregistry schema can be found here.
- Has incoming URI collisions
-
The following resources share a URI format string with
orphanet:
orphanet.ordoWhen generating an extended prefix map, their respective CURIE prefixes and URI prefixes are merged into the record for
orphanet. If you believe that these are distinct semantic spaces and should not be merged, please open a new issue on the Bioregistry issue tracker for discussion. - In Collection
- Global Biodata Coalition - Global Core Biodata Resources Synapse.org external links
Metaregistry Orphanet
The metaregistry provides mappings between the Bioregistry and other registries. There are 9 mappings to external registries for this resource with 5 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
| BioContext | biocontext |
Orphanet
|
|
Biolink
|
biolink |
orphanet
|
|
FAIRSharing
|
fairsharing |
FAIRsharing.6bd5k6
|
|
Integbio
|
integbio |
nbdc01422
|
|
Identifiers.org
|
miriam |
orphanet
|
|
N2T
|
n2t |
orphanet
|
|
Prefix Commons
|
prefixcommons |
orphanet
|
|
UniProt
|
uniprot |
DB-0068
|
|
Wikidata
|
wikidata |
P1550
|
Providers
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier 85163 is used to demonstrate the providers
available for Orphanet. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Name | Metaprefix | URI |
|---|---|---|
| Orphanet | orphanet |
http://www.orpha.net/ORDO/Orphanet_85163 |
| Bioregistry | bioregistry |
https://bioregistry.io/orphanet:85163 |
| Identifiers.org | miriam |
https://identifiers.org/orphanet:85163 |
| Name-to-Thing | n2t |
https://n2t.net/orphanet:85163 |
Extra Providers
Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
| Code | Name | URL |
|---|---|---|
|
Bio2RDF | http://bio2rdf.org/orphanet:85163 |
bio2rdf |
Bio2RDF | http://bio2rdf.org/orphanet:85163 |